{{Rsnum
|rsid=946616
|Gene=PYGL
|Chromosome=14
|position=50921064
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.08724
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=PYGL
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 19.5 | 80.5
| HCB | 0.0 | 2.3 | 97.7
| JPT | 0.9 | 13.8 | 85.3
| YRI | 7.6 | 36.6 | 55.9
| ASW | 1.8 | 26.3 | 71.9
| CHB | 0.0 | 2.3 | 97.7
| CHD | 0.0 | 0.9 | 99.1
| GIH | 0.0 | 13.9 | 86.1
| LWK | 0.0 | 37.6 | 62.4
| MEX | 1.8 | 7.0 | 91.2
| MKK | 2.6 | 22.7 | 74.7
| TSI | 1.0 | 19.6 | 79.4
| HapMapRevision=28
}}{{Venter SNP
|rsid=946616
|allele=T
|frequency=0.1
|uid=1103649060504
|type=heterozygous_SNP
|hugo=PYGL
|ensembl gene=ENSG00000100504
|ensembl transcript=ENST00000216392
|sift=TOLERATED
|disease=Defects in PYGL are the cause of glycogen storage disease type VI (GSD-VI) (MIM:232700); also known as Hers disease. Clinically, GSD-VI is characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly.
}}

{{GET Evidence
|gene=PYGL
|aa_change=Val222Ile
|aa_change_short=V222I
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs946616
|overall_frequency_n=1142
|overall_frequency_d=10758
|overall_frequency=0.106154
|n_genomes=11
|n_genomes_annotated=0
|n_haplomes=13
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.336
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-4
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}